Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300460 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
PCDH19 PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | ||||||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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PCDH19 - protocadherin 19 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001105243.1 | 4470 | Missense Mutation | CGT,TGT | R,C 933 | NP_001098713.1 | |
NM_001184880.1 | 4470 | Missense Mutation | CGT,TGT | R,C 980 | NP_001171809.1 | |
NM_020766.2 | 4470 | Missense Mutation | CGT,TGT | R,C 932 | NP_065817.2 | |
XM_011530997.2 | 4470 | Missense Mutation | CGT,TGT | R,C 979 | XP_011529299.1 |
Set Membership: |
HapMap |